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Полногеномное секвенирование (WGS) с использованием технологии PacBio HiFi: комплексный подход к клиническому применению в Юго-Восточной Азии
Comparison of clinical sequencing platforms for whole-genome analysis
Feature | Illumina SR-WGS | ONT R10.4.1 | PacBio Revio HiFi | PacBio Vega HiFi |
Read length | 150 bp | 10–100+ kb (ultra-long) | 10–25 kb | 10–25 kb |
Per-base accuracy | ~Q30 (99.9%) | Q20–Q30 | Q30+ (99.9%) | Q30+ (99.9%) |
SNV recall (GIAB) | ≥99.5% | 99.4–99.7% | ≥99.9% | ≥99.9% |
SV recall (≥50 bp) | 30–50% | ~90% | ≥90% | ≥90% |
Repeat expansions | Mostly invisible | Native detection | Native detection | Native detection |
Native 5mC/5hmC/6mA | No | Yes | Yes (SPRQ-Nx) | Yes (SPRQ-Nx) |
Throughput/run | Very high | Variable | ~4–5 genomes/24h | 1 SMRT cell |
Best clinical fit | Population panels, oncology panels | Ultra-long phasing, rapid in-field | Population WGS hub | Tertiary clinical site |
